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Gene: BLOC1S2 |
Gene summary for BLOC1S2 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | BLOC1S2 | Gene ID | 282991 |
| Gene name | biogenesis of lysosomal organelles complex 1 subunit 2 | |
| Gene Alias | BLOS2 | |
| Cytomap | 10q24.31 | |
| Gene Type | protein-coding | GO ID | GO:0006810 | UniProtAcc | Q6QNY1 |
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Malignant transformation analysis |
| Identification of the aberrant gene expression in precancerous and cancerous lesions by comparing the gene expression of stem-like cells in diseased tissues with normal stem cells |
| Malignant transformation involving gene list. |
| Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
| 282991 | BLOC1S2 | LZE4T | Human | Esophagus | ESCC | 2.45e-23 | 6.24e-01 | 0.0811 |
| 282991 | BLOC1S2 | LZE7T | Human | Esophagus | ESCC | 1.07e-05 | 5.83e-01 | 0.0667 |
| 282991 | BLOC1S2 | LZE8T | Human | Esophagus | ESCC | 4.81e-08 | 2.65e-01 | 0.067 |
| 282991 | BLOC1S2 | LZE22T | Human | Esophagus | ESCC | 6.21e-07 | 2.15e-01 | 0.068 |
| 282991 | BLOC1S2 | LZE24T | Human | Esophagus | ESCC | 7.96e-27 | 8.26e-01 | 0.0596 |
| 282991 | BLOC1S2 | LZE6T | Human | Esophagus | ESCC | 6.12e-07 | 2.40e-01 | 0.0845 |
| 282991 | BLOC1S2 | P2T-E | Human | Esophagus | ESCC | 5.27e-52 | 9.08e-01 | 0.1177 |
| 282991 | BLOC1S2 | P4T-E | Human | Esophagus | ESCC | 1.79e-56 | 1.40e+00 | 0.1323 |
| 282991 | BLOC1S2 | P5T-E | Human | Esophagus | ESCC | 1.94e-54 | 1.08e+00 | 0.1327 |
| 282991 | BLOC1S2 | P8T-E | Human | Esophagus | ESCC | 1.08e-28 | 5.16e-01 | 0.0889 |
| 282991 | BLOC1S2 | P9T-E | Human | Esophagus | ESCC | 2.03e-24 | 6.65e-01 | 0.1131 |
| 282991 | BLOC1S2 | P10T-E | Human | Esophagus | ESCC | 8.28e-19 | 2.95e-01 | 0.116 |
| 282991 | BLOC1S2 | P11T-E | Human | Esophagus | ESCC | 2.81e-12 | 8.65e-01 | 0.1426 |
| 282991 | BLOC1S2 | P12T-E | Human | Esophagus | ESCC | 6.76e-38 | 7.79e-01 | 0.1122 |
| 282991 | BLOC1S2 | P15T-E | Human | Esophagus | ESCC | 1.32e-34 | 8.21e-01 | 0.1149 |
| 282991 | BLOC1S2 | P16T-E | Human | Esophagus | ESCC | 9.51e-32 | 4.42e-01 | 0.1153 |
| 282991 | BLOC1S2 | P17T-E | Human | Esophagus | ESCC | 1.21e-08 | 3.71e-01 | 0.1278 |
| 282991 | BLOC1S2 | P19T-E | Human | Esophagus | ESCC | 8.70e-03 | 8.25e-01 | 0.1662 |
| 282991 | BLOC1S2 | P20T-E | Human | Esophagus | ESCC | 5.19e-17 | 4.07e-01 | 0.1124 |
| 282991 | BLOC1S2 | P21T-E | Human | Esophagus | ESCC | 2.96e-36 | 5.88e-01 | 0.1617 |
| Page: 1 2 3 4 5 6 |
| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Esophagus |  | ESCC: Esophageal squamous cell carcinoma |
| HGIN: High-grade intraepithelial neoplasias | ||
| LGIN: Low-grade intraepithelial neoplasias | ||
| Liver |  | HCC: Hepatocellular carcinoma |
| NAFLD: Non-alcoholic fatty liver disease | ||
| Oral Cavity |  | EOLP: Erosive Oral lichen planus |
| LP: leukoplakia | ||
| NEOLP: Non-erosive oral lichen planus | ||
| OSCC: Oral squamous cell carcinoma | ||
| Skin |  | AK: Actinic keratosis |
| cSCC: Cutaneous squamous cell carcinoma | ||
| SCCIS:squamous cell carcinoma in situ | ||
| Thyroid |  | ATC: Anaplastic thyroid cancer |
| HT: Hashimoto's thyroiditis | ||
| PTC: Papillary thyroid cancer |
| ∗log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage. |
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Malignant transformation related pathway analysis |
| Find out the enriched GO biological processes and KEGG pathways involved in transition from healthy to precancer to cancer |
| Figure of enriched GO biological processes. |
| Tissue | Disease Stage | Enriched GO biological Processes |
| Colorectum | AD |  |
| Colorectum | SER |  |
| Colorectum | MSS |  |
| Colorectum | MSI-H |  |
| Colorectum | FAP |  |
| ∗Top 15 enriched GO BP terms are showed in the bar plot of each disease state in each tissue. Each row represents a significant GO biological process which is colored according to the -log10(p.adjust). |
| Page: 1 2 3 4 5 6 7 8 9 |
| Enriched GO biological processes. |
| GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
| GO:005165617 | Esophagus | ESCC | establishment of organelle localization | 273/8552 | 390/18723 | 9.13e-23 | 1.81e-20 | 273 |
| GO:0006839110 | Esophagus | ESCC | mitochondrial transport | 187/8552 | 254/18723 | 8.35e-20 | 9.81e-18 | 187 |
| GO:001605014 | Esophagus | ESCC | vesicle organization | 211/8552 | 300/18723 | 2.85e-18 | 2.87e-16 | 211 |
| GO:001619715 | Esophagus | ESCC | endosomal transport | 168/8552 | 230/18723 | 2.28e-17 | 1.93e-15 | 168 |
| GO:0097191111 | Esophagus | ESCC | extrinsic apoptotic signaling pathway | 159/8552 | 219/18723 | 4.12e-16 | 2.94e-14 | 159 |
| GO:000700619 | Esophagus | ESCC | mitochondrial membrane organization | 93/8552 | 116/18723 | 2.16e-14 | 1.11e-12 | 93 |
| GO:0008637110 | Esophagus | ESCC | apoptotic mitochondrial changes | 83/8552 | 107/18723 | 1.43e-11 | 5.08e-10 | 83 |
| GO:005165016 | Esophagus | ESCC | establishment of vesicle localization | 114/8552 | 161/18723 | 8.20e-11 | 2.53e-09 | 114 |
| GO:003070518 | Esophagus | ESCC | cytoskeleton-dependent intracellular transport | 133/8552 | 195/18723 | 1.48e-10 | 4.27e-09 | 133 |
| GO:001097013 | Esophagus | ESCC | transport along microtubule | 107/8552 | 155/18723 | 3.17e-09 | 6.80e-08 | 107 |
| GO:005164815 | Esophagus | ESCC | vesicle localization | 119/8552 | 177/18723 | 5.16e-09 | 1.08e-07 | 119 |
| GO:00723846 | Esophagus | ESCC | organelle transport along microtubule | 65/8552 | 85/18723 | 6.61e-09 | 1.35e-07 | 65 |
| GO:000808810 | Esophagus | ESCC | axo-dendritic transport | 58/8552 | 75/18723 | 2.09e-08 | 4.02e-07 | 58 |
| GO:004690217 | Esophagus | ESCC | regulation of mitochondrial membrane permeability | 49/8552 | 63/18723 | 1.91e-07 | 2.97e-06 | 49 |
| GO:00905599 | Esophagus | ESCC | regulation of membrane permeability | 58/8552 | 78/18723 | 2.38e-07 | 3.61e-06 | 58 |
| GO:00357948 | Esophagus | ESCC | positive regulation of mitochondrial membrane permeability | 36/8552 | 43/18723 | 2.90e-07 | 4.20e-06 | 36 |
| GO:00989304 | Esophagus | ESCC | axonal transport | 49/8552 | 64/18723 | 4.54e-07 | 6.15e-06 | 49 |
| GO:009734510 | Esophagus | ESCC | mitochondrial outer membrane permeabilization | 28/8552 | 32/18723 | 1.02e-06 | 1.29e-05 | 28 |
| GO:000862519 | Esophagus | ESCC | extrinsic apoptotic signaling pathway via death domain receptors | 59/8552 | 82/18723 | 1.23e-06 | 1.52e-05 | 59 |
| GO:190268614 | Esophagus | ESCC | mitochondrial outer membrane permeabilization involved in programmed cell death | 33/8552 | 40/18723 | 1.80e-06 | 2.11e-05 | 33 |
| Page: 1 2 3 4 5 6 7 8 9 10 11 |
| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
| Page: 1 |
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Cell-cell communication analysis |
| Identification of potential cell-cell interactions between two cell types and their ligand-receptor pairs for different disease states |
| Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
| Page: 1 |
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Single-cell gene regulatory network inference analysis |
| Find out the significant the regulons (TFs) and the target genes of each regulon across cell types for different disease states |
| TF | Cell Type | Tissue | Disease Stage | Target Gene | RSS | Regulon Activity |
| ∗The dot plots of a searched regulon are shown for all cell subpopulations in each disease state of each tissue based on the regulon specific score inferred using pySCENIC and by calculating the average expression. |
| Page: 1 |
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Somatic mutation of malignant transformation related genes |
| Annotation of somatic variants for genes involved in malignant transformation |
| Hugo Symbol | Variant Class | Variant Classification | dbSNP RS | HGVSc | HGVSp | HGVSp Short | SWISSPROT | BIOTYPE | SIFT | PolyPhen | Tumor Sample Barcode | Tissue | Histology | Sex | Age | Stage | Therapy Types | Drugs | Outcome |
| BLOC1S2 | SNV | Missense_Mutation | novel | c.124N>T | p.Arg42Trp | p.R42W | Q6QNY1 | protein_coding | tolerated(0.07) | possibly_damaging(0.865) | TCGA-AC-A2BK-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | cytoxan | CR |
| BLOC1S2 | SNV | Missense_Mutation | c.296C>A | p.Ala99Asp | p.A99D | Q6QNY1 | protein_coding | tolerated(0.44) | possibly_damaging(0.815) | TCGA-AD-5900-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |
| BLOC1S2 | SNV | Missense_Mutation | c.137N>A | p.Ser46Tyr | p.S46Y | Q6QNY1 | protein_coding | deleterious(0.01) | possibly_damaging(0.852) | TCGA-D5-6532-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD | |
| BLOC1S2 | deletion | Frame_Shift_Del | c.393delN | p.Lys131AsnfsTer32 | p.K131Nfs*32 | Q6QNY1 | protein_coding | TCGA-AA-3715-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD | |||
| BLOC1S2 | SNV | Missense_Mutation | c.244G>T | p.Asp82Tyr | p.D82Y | Q6QNY1 | protein_coding | tolerated(0.1) | probably_damaging(0.916) | TCGA-AP-A1DV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
| BLOC1S2 | SNV | Missense_Mutation | c.371N>C | p.Lys124Thr | p.K124T | Q6QNY1 | protein_coding | deleterious(0) | probably_damaging(0.977) | TCGA-B5-A0JY-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | SD | |
| BLOC1S2 | SNV | Missense_Mutation | novel | c.230N>G | p.Tyr77Cys | p.Y77C | Q6QNY1 | protein_coding | deleterious(0) | probably_damaging(0.993) | TCGA-DD-AAE7-01 | Liver | liver hepatocellular carcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
| BLOC1S2 | SNV | Missense_Mutation | c.422A>T | p.Lys141Met | p.K141M | Q6QNY1 | protein_coding | deleterious(0) | possibly_damaging(0.52) | TCGA-49-4507-01 | Lung | lung adenocarcinoma | Female | >=65 | III/IV | Chemotherapy | taxol | PD | |
| BLOC1S2 | SNV | Missense_Mutation | c.368N>G | p.Tyr123Cys | p.Y123C | Q6QNY1 | protein_coding | deleterious(0) | probably_damaging(0.989) | TCGA-67-3771-01 | Lung | lung adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| BLOC1S2 | SNV | Missense_Mutation | rs752400195 | c.50C>T | p.Ala17Val | p.A17V | Q6QNY1 | protein_coding | tolerated(0.31) | benign(0) | TCGA-77-7142-01 | Lung | lung squamous cell carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| Page: 1 |
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Related drugs of malignant transformation related genes |
| Identification of chemicals and drugs interact with genes involved in malignant transfromation |
| (DGIdb 4.0) |
| Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
| Page: 1 |
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